ClinVar for Gene (Select 112997538) - ClinVar - NCBI

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Links from Gene

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579270	GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	ABCG2, ABRAXAS1 +338 more	Copy number loss	Chromosome 4q21 deletion syndrome	GPathogenic
Select item 2257995	NM_016129.3(COPS4):c.11C>T (p.Ala4Val)	COPS4, LOC112997538 (A4V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992716, LOC129992717 +533 more	Copy number gain	See cases	GPathogenic
Select item 155254	GRCh38/hg38 4q21.22-21.23(chr4:81675848-83970410)x1	ABRAXAS1, COPS4 +74 more	Copy number loss	See cases	GLikely pathogenic
Select item 151718	GRCh38/hg38 4q21.21-21.3(chr4:80043949-86948317)x1	ABRAXAS1, AFF1 +146 more	Copy number loss	See cases	GPathogenic
Select item 149262	GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3	ABRAXAS1, ADAMTS3 +331 more	Copy number gain	See cases	GPathogenic
Select item 148797	GRCh38/hg38 4q21.21-21.23(chr4:80908016-84329610)x1	ABRAXAS1, BMP3 +90 more	Copy number loss	See cases	GLikely pathogenic
Select item 148194	GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	ABCG2, ABRAXAS1 +335 more	Copy number loss	See cases	GPathogenic
Select item 147709	GRCh38/hg38 4q21.21-21.23(chr4:79786514-85832807)x1	ABRAXAS1, ANTXR2 +137 more	Copy number loss	See cases	GPathogenic
Select item 146518	GRCh38/hg38 4q21.21-21.22(chr4:79742612-83153725)x1	ANTXR2, BMP3 +83 more	Copy number loss	See cases	GUncertain significance
Select item 145649	GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1	ABCG2, ABRAXAS1 +244 more	Copy number loss	See cases	GPathogenic
Select item 59458	GRCh38/hg38 4q21.22-21.23(chr4:81802008-83437114)x1	COPS4, COQ2 +60 more	Copy number loss	See cases	GPathogenic
Select item 59457	GRCh38/hg38 4q21.22-21.23(chr4:81733333-83448842)x1	COPS4, COQ2 +60 more	Copy number loss	See cases	GPathogenic
Select item 59456	GRCh38/hg38 4q21.21-21.23(chr4:81061483-83332595)x1	COPS4, COQ2 +68 more	Copy number loss	See cases	GPathogenic
Select item 59455	GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1	ABCG2, ABRAXAS1 +251 more	Copy number loss	See cases	GPathogenic
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 57143	GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)x1	LOC129992733, LOC129992734 +236 more	Copy number loss	See cases	GPathogenic